“Ce qui fonctionne pour un ne fonctionnera peut-\u00eatre pas pour l’autre mais des pistes et des id\u00e9es pour les faire progresser m\u00eame un petit peu est toujours bon \u00e0 prendre”<\/em><\/p>\n “What works for one may not work for the other, but ideas and ideas to help them progress even a little is always worth taking!”<\/em><\/p>\n Nous sommes une famille de 6 , nous avons 4 garcons !? … Largo le num\u00e9ro 3 de notre famille et a 4 ans. Il a cette duplication 7q11.23 ,nous venons de l’apprendre il y a 2 mois …<\/p>\n We are a family of 6, we have 4 boys! Largo is the number 3 inour family and is 4 years old. He has this 7q11.23 duplication, we just learned about it 2 months ago.<\/p>\n Nous aimons jouer tous ensemble et faire des promenades en ext\u00e9rieur mais pour Largo c’est compliqu\u00e9 parce qu’il n’a pas beaucoup de tonus musculaire pour marcher longtemps et les TDAH l’emp\u00eache d interagir avec nous de la bonne fa\u00e7on pour les jeux et il a tr\u00e8s peu de patience.<\/p>\n We all like to play together and go for walks outside but for Largo it’s complicated because he doesn’t have a lot of muscle tone to walk for a long time and ADHD prevents him from interacting with us in the right way for games. And he has very little patience.<\/p>\n Ce qui l’envah\u00eet le plus c’est l’autisme. A l’\u00e9cole il s contr\u00f4le bien, il \u00e9t\u00e9 m\u00eame trop calme! Mais \u00e0 la maison c’est autre chose. C’est dur pour ses fr\u00e8res de passer des bons moments avec lui mais parfois \u00e7a se passe. Largo est suivit pour Kin\u00e9 , psychomotricit\u00e9, psychologue, logop\u00e9de et ergoth\u00e9rapie prochainement! Biensur g\u00e9n\u00e9tique et Neuropediatre \u00e9galement. \u00c7a prend beaucoup de temps et d’organisation! Il a une hydroc\u00e9phalie externe. Il a de gros probl\u00e8mes de constipation et une mauvaise vue compens\u00e9e avec des lunettes. Il dort tr\u00e8s peu et demande une surveillance permanente pour \u00e9viter les grosses b\u00eatises et les fugues. Il a un retard de language mais parle beaucoup quand il veut\u00a0et sait bien crier!!! Il a une excellente m\u00e9moire et ne manque jamais de rappeler ce qu’on a promis \u00a0il d\u00e9teste les inconnus et les impr\u00e9vus. C’est un grand passionn\u00e9 de tracteurs. Quand il a d\u00e9cid\u00e9 il est c\u00e2lin \u00e0 sa fa\u00e7on et tr\u00e8s pot de colle<\/p>\n What invades him the most is autism. At school he controls himself well, he was even too calm! But at home it’s something else. It’s hard for his brothers to have a good time with him but sometimes it happens. Largo is being followed for physiotherapy, psychomotricity, psychologist, speech therapist and occupational therapy soon! Of course genetics and neuropediatrician also. It takes a lot of time and organization! He has external hydrocephalus. He has big problems with constipation and poor eyesight that is compensated for with glasses. He sleeps very little and requires constant surveillance to avoid big mistakes and running away. He has a language delay but speaks a lot when he wants\u00a0and knows how to shout well! He has an excellent memory and never fails to recall what has been promised.\u00a0He hates strangers and the unexpected. He is a big fan of tractors. When he has decided, he is cuddly in his own way.<\/p>\n Nous participons car nous avons tr\u00e8s peu d’informations sur cette maladie rare et sommes preneurs et \u00e0 l’\u00e9coute de savoir si tel ou telles choses a aid\u00e9 certains enfants pour leur bon d\u00e9veloppement.<\/p>\n We participate because we have very little information on this rare disease and we are interested and attentive to know if such or such things have helped certain children for their good development.<\/p>\n Un espoir d’avancement pour nos enfants dans le futur que ces pathologies soient d\u00e9tectable plus t\u00f4t.<\/p>\n A hope of advancement for our children in the future that these pathologies are detectable earlier.<\/p>\n Informer plus de professionnel de la sant\u00e9 sur les maladies g\u00e9n\u00e9tiques. Nous avons mit 2ans a dire que quelque chose n’allais pas chez notre gar\u00e7ons et c’est part hasard que son ORL et non son m\u00e9decin a trouver cette duplication…nous avons perdu beaucoup de temps!<\/p>\n Inform more health professionals about genetic diseases. We took 2 years to say that something was wrong with our boys and it was by chance that his ENT and not his doctor found this duplication…we wasted a lot of time!<\/p>\n \u00c7a aide toujours d’une fa\u00e7on ou en une autre d’entendre les exp\u00e9riences d’autres famille. Ce qui fonctionne pour un ne fonctionnera peut-\u00eatre pas pour l’autre mais des pistes et des id\u00e9es pour les faire progresser m\u00eame un petit peu est toujours bon \u00e0 prendre!<\/p>\n It always helps somehow to hear the experiences of other families. What works for one may not work for the other, but ideas and ideas to help them progress even a little is always worth taking!<\/p>\n Ne baissez pas les bras avec la patience! Prenez le plus vite possible des rdv dans les centre pluridisciplinaires pour que cela vous revienne moins cher pour les soins car dans le priv\u00e9 \u00e7a chiffre vite et il y a des d\u00e9lais parfois jusqu 2ans d’attente. Toujours renforcer le positif! Et encore de la patience,\u00a0Courage, Profitez des bons moments il sont pr\u00e9cieux<\/p>\n Do not give up with patience! Make appointments as quickly as possible in the multidisciplinary centers so that it comes back to you less expensive for the care because in the private sector it figures quickly and there are delays sometimes up to 2 years of waiting. Always reinforce the positive! And more patience, courage. Enjoy the good times they are precious.<\/p>\n <\/p>\n English responses translated using Google.<\/p>\n","protected":false},"excerpt":{"rendered":" By: Floranne, Parent of Largo, a 4 year old with a 7q11.23 duplication “Ce qui fonctionne pour un ne fonctionnera peut-\u00eatre pas pour l’autre mais des pistes et des id\u00e9es pour les faire progresser m\u00eame un petit peu est toujours bon \u00e0 prendre” “What works for one may not work for the other, but ideas […]<\/p>\n","protected":false},"author":13,"featured_media":0,"parent":5652,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"_relevanssi_hide_post":"","_relevanssi_hide_content":"","_relevanssi_pin_for_all":"","_relevanssi_pin_keywords":"","_relevanssi_unpin_keywords":"","_relevanssi_related_keywords":"","_relevanssi_related_include_ids":"","_relevanssi_related_exclude_ids":"","_relevanssi_related_no_append":"","_relevanssi_related_not_related":"","_relevanssi_related_posts":"","_relevanssi_noindex_reason":"","footnotes":""},"acf":[],"_links":{"self":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/10889"}],"collection":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/users\/13"}],"replies":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/comments?post=10889"}],"version-history":[{"count":2,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/10889\/revisions"}],"predecessor-version":[{"id":10891,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/10889\/revisions\/10891"}],"up":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/5652"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/media?parent=10889"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}What is your family like?<\/h3>\n
What do you do for fun?<\/h3>\n
Tell us about the biggest hardship you face.<\/h3>\n
What motivates you to participate in research? How has participating in research been helpful for you?<\/h3>\n
How do you feel you are helping Simons Searchlight<\/span> learn more about rare genetic changes?<\/h3>\n
What is one question you wish researchers could answer about this genetic change?<\/h3>\n
What have you learned about your or your child’s genetic condition from other families?<\/h3>\n
If you could give one piece of advice to someone recently diagnosed with this genetic change, what would it be?<\/h3>\n